Cleidocranial dysostosis

cleidocranial-dysostosis-2x

Overview

Cleidocranial dysostosis comes from the words cleido (collar bone), cranial (head) and dysostosis (abnormal bone forming); it is also known as cleidocranial dysplasia. It's characterized by abnormalities of the face and head and by the complete or partial absence of the collar bones, or clavicles.

Characteristics of cleidocranial dysostosis include:

  • Delayed closure of the spaces between the bones of the skull
  • Underdeveloped cheekbones and prominent brow bone
  • Wide nasal bridge due to increased space between the eyes
  • High arched palate or possible cleft palate
  • Short stature
  • Scoliosis
  • Hearing loss

Diagnosis

Cleidocranial dysostosis is diagnosed with a physical examination and X-rays of the head, chest and hands. Genetic testing for mutations in the gene that causes the condition, RUNX2, is available but usually isn't necessary for the initial diagnosis.

Treatment

Because dental problems — such as delayed tooth eruption and additional teeth — are the most significant complications of cleidocranial dysostosis, proper dental and orthodontic treatment is critical. Dental problems are due to direct effects on developing teeth caused by mutations in the gene RUNX2.

Sinus and middle ear infections are also common and require aggressive treatment. If your child has frequent middle ear infections, tympanostomy tubes may be recommended. These are small tubes that are surgically placed into the eardrum to equalize pressure and aerate the middle ear, which helps prevent further infections and hearing loss.

Your child should also be evaluated by an orthopedic specialist for scoliosis, bone density abnormalities and osteoporosis, and other bone abnormalities such as missing collar bones.

UCSF Benioff Children's Hospitals medical specialists have reviewed this information. It is for educational purposes only and is not intended to replace the advice of your child's doctor or other health care provider. We encourage you to discuss any questions or concerns you may have with your child's provider.

Where to get care (1)

craniofacial-center-320x320-2x 2

Craniofacial Center

Craniofacial Center

San Francisco / Oakland

Support services

Child Life

Certified child life specialists ease the stress and anxiety of childhood illness through therapeutic play, schooling and family-focused support.

Family Amenities

Family-friendly amenities help you relax and take care of yourself while staying close to your child. We offer lounges, kitchens, showers, breastfeeding rooms and more.

Family Resource Center

We help families cope with the challenges of childhood illness and hospitalization in a relaxing environment where parents can get a much-needed break.

glogau-teddy-bear-rescue-fund-2x

Glogau Teddy Bear Rescue Fund

Families that need additional assistance during their child's hospital stay have access to toys, hotel vouchers and other amenities. Find out more.

interpreters-2x

Interpreter Services & Communication Assistance

Interpreter services in many languages and TDDs are available for families that need help communicating with care teams. Here's how to access them.

social-services-2x

Social Services

Social workers ease the effect of illness, injury and hospitalization on your family with counseling and assistance to help you navigate the challenges.

Awards & recognition

  • Ranked among the nation's best in 10 specialties

Saving future lives

500+ UCSF investigators are researching cures for hundreds of childhood and adult diseases.

Share